Linked Data
dbSNP Id:
rs553523967
ExAC:
2:203395621 C / G
gnomAD v2:
2-203395621-C-G
gnomAD v3:
2-202530898-C-G
gnomAD v4:
2-202530898-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202530898C>G , CM000664.2:g.202530898C>G | GRCh38 |
| NC_000002.11:g.203395621C>G , CM000664.1:g.203395621C>G | GRCh37 |
| NC_000002.10:g.203103866C>G | NCBI36 |
| NG_009363.1:g.159572C>G , LRG_712:g.159572C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1072C>G MANE Select | ENSP00000363708.4:p.Leu358Val | |
| ENST00000638587.1:c.1003C>G | ENSP00000491062.1:p.Leu335Val | |
| ENST00000374574.2:c.1072C>G | ENSP00000363702.2:p.Leu358Val | |
| ENST00000374580.8:c.1072C>G | ENSP00000363708.4:p.Leu358Val | |
| NM_001204.6:c.1072C>G , LRG_712t1:c.1072C>G | NP_001195.2:p.Leu358Val | |
| XM_011511687.1:c.1072C>G | XP_011509989.1:p.Leu358Val | |
| XM_011511688.1:c.1072C>G | XP_011509990.1:p.Leu358Val | |
| NM_001204.7:c.1072C>G MANE Select | NP_001195.2:p.Leu358Val |