Linked Data
ClinVar Variation Id:
7788
ClinVar RCV Id:
RCV000008230
RCV000147254
RCV000324320
RCV000763558
RCV001826454
RCV002512898
RCV003137500
dbSNP Id:
rs61753238
gnomAD v2:
6-137143923-C-G
gnomAD v3:
6-136822785-C-G
gnomAD v4:
6-136822785-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136822785C>G , CM000668.2:g.136822785C>G | GRCh38 |
| NC_000006.11:g.137143923C>G , CM000668.1:g.137143923C>G | GRCh37 |
| NC_000006.10:g.137185616C>G | NCBI36 |
| NG_008462.1:g.5206C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.120C>G MANE Select | ENSP00000315680.3:p.Tyr40Ter | |
| ENST00000541292.6:c.120C>G | ENSP00000441004.1:p.Tyr40Ter | |
| ENST00000678593.1:c.120C>G | ENSP00000503841.1:p.Tyr40Ter | |
| ENST00000318471.4:c.120C>G | ENSP00000315680.3:p.Tyr40Ter | |
| ENST00000367756.8:c.120C>G | ENSP00000356730.4:p.Tyr40Ter | |
| ENST00000541292.5:c.120C>G | ENSP00000441004.1:p.Tyr40Ter | |
| NM_000288.3:c.120C>G | NP_000279.1:p.Tyr40Ter | |
| XM_006715502.1:c.120C>G | XP_006715565.1:p.Tyr40Ter | |
| XM_011535900.1:c.120C>G | XP_011534202.1:p.Tyr40Ter | |
| XM_006715502.2:c.120C>G | XP_006715565.1:p.Tyr40Ter | |
| XM_017010934.2:c.120C>G | XP_016866423.1:p.Tyr40Ter | |
| NM_000288.4:c.120C>G MANE Select | NP_000279.1:p.Tyr40Ter |