Linked Data
dbSNP Id:
rs1401117514
gnomAD v2:
12-121435261-T-C
gnomAD v3:
12-120997458-T-C
gnomAD v4:
12-120997458-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997458T>C , CM000674.2:g.120997458T>C | GRCh38 |
| NC_000012.11:g.121435261T>C , CM000674.1:g.121435261T>C | GRCh37 |
| NC_000012.10:g.119919644T>C | NCBI36 |
| NG_011731.2:g.23713T>C , LRG_522:g.23713T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*57-16T>C | ENSP00000453965.2:n.*57-16T>C | |
| ENST00000257555.11:c.1310-16T>C MANE Select | ENSP00000257555.5:n.1310-16T>C | |
| ENST00000257555.10:c.1310-16T>C | ENSP00000257555.4:n.1310-16T>C | |
| ENST00000400024.6:c.1310-16T>C | ENSP00000476181.1:n.1310-16T>C | |
| ENST00000402929.5:n.2160T>C | ||
| ENST00000535955.5:n.43-33T>C | ||
| ENST00000538626.2:n.191-33T>C | ||
| ENST00000538646.5:c.*286-16T>C | ENSP00000443964.1:n.*286-16T>C | |
| ENST00000540108.1:c.*750-16T>C | ENSP00000445445.1:n.*750-16T>C | |
| ENST00000541395.5:c.1310-16T>C | ENSP00000443112.1:n.1310-16T>C | |
| ENST00000541924.5:c.*324-16T>C | ENSP00000440361.1:n.*324-16T>C | |
| ENST00000543255.1:n.354-16T>C | ||
| ENST00000543427.5:c.773-16T>C | ENSP00000439721.2:n.773-16T>C | |
| ENST00000544413.2:c.1310-16T>C | ENSP00000438804.1:n.1310-16T>C | |
| ENST00000544574.5:c.*73-16T>C | ENSP00000438565.1:n.*73-16T>C | |
| ENST00000560968.5:c.1127-16T>C | ||
| ENST00000615446.4:c.98-16T>C | ENSP00000483994.1:n.98-16T>C | |
| ENST00000617366.4:c.587-176T>C | ENSP00000481967.1:n.587-176T>C | |
| NM_000545.5:c.1310-16T>C , LRG_522t1:c.1310-16T>C | NP_000536.5:n.1310-16T>C | |
| NM_000545.6:c.1310-16T>C | NP_000536.5:n.1310-16T>C | |
| NM_001306179.1:c.1310-16T>C | NP_001293108.1:n.1310-16T>C | |
| XM_005253931.2:c.1310-16T>C | XP_005253988.1:n.1310-16T>C | |
| XM_024449168.1:c.1310-16T>C | XP_024304936.1:n.1310-16T>C | |
| NM_000545.8:c.1310-16T>C MANE Select | NP_000536.6:n.1310-16T>C | |
| NM_001306179.2:c.1310-16T>C | NP_001293108.2:n.1310-16T>C |