Linked Data
ClinVar Variation Id:
92991
dbSNP Id:
rs113644365
ExAC:
6:129826335 T / C
gnomAD v2:
6-129826335-T-C
gnomAD v3:
6-129505190-T-C
gnomAD v4:
6-129505190-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129505190T>C , CM000668.2:g.129505190T>C | GRCh38 |
| NC_000006.11:g.129826335T>C , CM000668.1:g.129826335T>C | GRCh37 |
| NC_000006.10:g.129868028T>C | NCBI36 |
| NG_008678.1:g.627050T>C , LRG_409:g.627050T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494137.2:c.613-10T>C | ENSP00000510626.1:n.613-10T>C | |
| ENST00000498257.6:c.613-10T>C | ENSP00000510533.1:n.613-10T>C | |
| ENST00000617695.5:c.8536-10T>C | ENSP00000481744.2:n.8536-10T>C | |
| ENST00000618192.5:c.8812-10T>C | ENSP00000480802.2:n.8812-10T>C | |
| ENST00000688198.1:n.1526-10T>C | ||
| ENST00000688799.1:c.613-10T>C | ENSP00000508458.1:n.613-10T>C | |
| ENST00000690858.1:n.1542-10T>C | ||
| ENST00000693461.1:n.885-10T>C | ||
| ENST00000421865.3:c.8548-10T>C MANE Select | ENSP00000400365.2:n.8548-10T>C | |
| ENST00000421865.2:c.8548-10T>C | ENSP00000400365.2:n.8548-10T>C | |
| ENST00000617695.4:c.8536-10T>C | ENSP00000481744.1:n.8536-10T>C | |
| ENST00000618192.4:c.8545-10T>C | ENSP00000480802.1:n.8545-10T>C | |
| NM_000426.3:c.8548-10T>C , LRG_409t1:c.8548-10T>C | NP_000417.2:n.8548-10T>C | |
| NM_001079823.1:c.8536-10T>C | NP_001073291.1:n.8536-10T>C | |
| XM_005266981.2:c.8812-10T>C | XP_005267038.1:n.8812-10T>C | |
| XM_005266982.2:c.8800-10T>C | XP_005267039.1:n.8800-10T>C | |
| XM_011535820.1:c.8806-10T>C | XP_011534122.1:n.8806-10T>C | |
| XR_942984.1:n.1461-2399A>G | ||
| XR_942985.1:n.1325-2399A>G | ||
| XM_005266981.3:c.8812-10T>C | XP_005267038.1:n.8812-10T>C | |
| XM_005266982.3:c.8800-10T>C | XP_005267039.1:n.8800-10T>C | |
| XM_011535820.2:c.8806-10T>C | XP_011534122.1:n.8806-10T>C | |
| XM_017010851.2:c.8818-10T>C | XP_016866340.1:n.8818-10T>C | |
| XM_017010852.1:c.6943-10T>C | XP_016866341.1:n.6943-10T>C | |
| XR_001743859.1:n.3901-2399A>G | ||
| XR_001743860.1:n.1180-2399A>G | ||
| XR_001743861.1:n.1347-2399A>G | ||
| XR_001743863.1:n.883-2399A>G | ||
| XR_002956395.1:n.9132-2399A>G | ||
| XR_002956396.1:n.3127-2399A>G | ||
| NM_000426.4:c.8548-10T>C MANE Select | NP_000417.3:n.8548-10T>C | |
| NM_001079823.2:c.8536-10T>C | NP_001073291.2:n.8536-10T>C |