Linked Data
dbSNP Id:
rs749603787
ExAC:
4:47408911 G / T
gnomAD v2:
4-47408911-G-T
gnomAD v4:
4-47406894-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406894G>T , CM000666.2:g.47406894G>T | GRCh38 |
| NC_000004.11:g.47408911G>T , CM000666.1:g.47408911G>T | GRCh37 |
| NC_000004.10:g.47103668G>T | NCBI36 |
| NG_051831.1:g.380617G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.1048G>T MANE Select | ENSP00000295454.3:p.Glu350Ter | |
| ENST00000295454.7:c.1048G>T | ENSP00000295454.3:p.Glu350Ter | |
| NM_000812.3:c.1048G>T | NP_000803.2:p.Glu350Ter | |
| XM_011513678.1:c.1027G>T | XP_011511980.1:p.Glu343Ter | |
| XM_017007985.1:c.397G>T | XP_016863474.1:p.Glu133Ter | |
| XM_024453976.1:c.949G>T | XP_024309744.1:p.Glu317Ter | |
| XM_024453977.1:c.949G>T | XP_024309745.1:p.Glu317Ter | |
| XM_024453978.1:c.949G>T | XP_024309746.1:p.Glu317Ter | |
| NM_000812.4:c.1048G>T MANE Select | NP_000803.2:p.Glu350Ter |