Linked Data
ClinVar Variation Id:
3091961
ClinVar RCV Id:
RCV004378820
dbSNP Id:
rs745401450
ExAC:
9:136444190 A / C
gnomAD v2:
9-136444190-A-C
gnomAD v3:
9-133579068-A-C
gnomAD v4:
9-133579068-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133579068A>C , CM000671.2:g.133579068A>C | GRCh38 |
| NC_000009.11:g.136444190A>C , CM000671.1:g.136444190A>C | GRCh37 |
| NC_000009.10:g.135434011A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496132.2:c.455T>G | ENSP00000419867.1:p.Met152Arg | |
| ENST00000673969.1:c.455T>G MANE Select | ENSP00000501259.1:p.Met152Arg | |
| ENST00000356873.7:c.455T>G | ENSP00000349336.3:p.Met152Arg | |
| ENST00000496132.1:c.455T>G | ENSP00000419867.1:p.Met152Arg | |
| NM_001080515.2:c.455T>G | NP_001073984.1:p.Met152Arg | |
| XM_005272203.3:c.455T>G | XP_005272260.1:p.Met152Arg | |
| XM_005272204.3:c.455T>G | XP_005272261.1:p.Met152Arg | |
| XM_005272205.3:c.455T>G | XP_005272262.1:p.Met152Arg | |
| XM_006717233.2:c.455T>G | XP_006717296.1:p.Met152Arg | |
| XM_011518912.1:c.455T>G | XP_011517214.1:p.Met152Arg | |
| XM_011518913.1:c.455T>G | XP_011517215.1:p.Met152Arg | |
| XR_428533.2:n.1312T>G | ||
| XM_005272203.5:c.455T>G | XP_005272260.1:p.Met152Arg | |
| XM_005272204.4:c.455T>G | XP_005272261.1:p.Met152Arg | |
| XM_006717233.3:c.455T>G | XP_006717296.1:p.Met152Arg | |
| XM_011518912.2:c.455T>G | XP_011517214.1:p.Met152Arg | |
| XM_011518913.2:c.455T>G | XP_011517215.1:p.Met152Arg | |
| XM_017015017.1:c.455T>G | XP_016870506.1:p.Met152Arg | |
| XM_017015018.1:c.455T>G | XP_016870507.1:p.Met152Arg | |
| NM_001080515.3:c.455T>G MANE Select | NP_001073984.1:p.Met152Arg | |
| NM_001371529.1:c.455T>G | NP_001358458.1:p.Met152Arg |