Linked Data
ClinVar Variation Id:
204240
ClinVar RCV Id:
RCV000186447
dbSNP Id:
rs180177325
ExAC:
9:37436757 T / C
gnomAD v2:
9-37436757-T-C
gnomAD v3:
9-37436760-T-C
gnomAD v4:
9-37436760-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436760T>C , CM000671.2:g.37436760T>C | GRCh38 |
| NC_000009.11:g.37436757T>C , CM000671.1:g.37436757T>C | GRCh37 |
| NC_000009.10:g.37426757T>C | NCBI36 |
| NG_008135.1:g.19051T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.965T>C MANE Select | ENSP00000313432.6:p.Met322Thr | |
| ENST00000318158.10:c.965T>C | ENSP00000313432.6:p.Met322Thr | |
| ENST00000460882.5:n.992T>C | ||
| ENST00000480596.5:n.1666T>C | ||
| ENST00000494290.1:c.*52-121T>C | ENSP00000432021.1:n.*52-121T>C | |
| ENST00000497693.1:n.4533T>C | ||
| NM_012203.1:c.965T>C | NP_036335.1:p.Met322Thr | |
| XM_005251631.1:c.644T>C | XP_005251688.1:p.Met215Thr | |
| XM_011518073.1:c.563T>C | XP_011516375.1:p.Met188Thr | |
| XM_017015320.2:c.946-651T>C | XP_016870809.1:n.946-651T>C | |
| XM_017015321.2:c.866-651T>C | XP_016870810.1:n.866-651T>C | |
| XM_017015323.2:c.544-651T>C | XP_016870812.1:n.544-651T>C | |
| XM_024447716.1:c.1219-651T>C | XP_024303484.1:n.1219-651T>C | |
| XM_024447717.1:c.1139-651T>C | XP_024303485.1:n.1139-651T>C | |
| XR_002956828.1:n.1234-651T>C | ||
| XR_002956829.1:n.1154-651T>C | ||
| XR_002956830.1:n.2385T>C | ||
| XR_002956831.1:n.2060T>C | ||
| XR_002956832.1:n.1384T>C | ||
| NM_012203.2:c.965T>C MANE Select | NP_036335.1:p.Met322Thr |