Linked Data
ClinVar Variation Id:
167477
dbSNP Id:
rs146519878
ExAC:
6:51612626 A / G
gnomAD v2:
6-51612626-A-G
gnomAD v3:
6-51747828-A-G
gnomAD v4:
6-51747828-A-G
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51747828A>G , CM000668.2:g.51747828A>G | GRCh38 |
| NC_000006.11:g.51612626A>G , CM000668.1:g.51612626A>G | GRCh37 |
| NC_000006.10:g.51720585A>G | NCBI36 |
| NG_008753.1:g.344798T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.9788T>C MANE Select | ENSP00000360158.3:p.Val3263Ala | |
| ENST00000340994.4:c.9788T>C | ENSP00000341097.4:p.Val3263Ala | |
| ENST00000371117.7:c.9788T>C | ENSP00000360158.3:p.Val3263Ala | |
| NM_138694.3:c.9788T>C | NP_619639.3:p.Val3263Ala | |
| NM_170724.2:c.9788T>C | NP_733842.2:p.Val3263Ala | |
| XM_011514679.1:c.9788T>C | XP_011512981.1:p.Val3263Ala | |
| XM_011514680.1:c.9788T>C | XP_011512982.1:p.Val3263Ala | |
| XM_011514681.1:c.9659T>C | XP_011512983.1:p.Val3220Ala | |
| XM_011514682.1:c.9650T>C | XP_011512984.1:p.Val3217Ala | |
| XM_011514683.1:c.9146T>C | XP_011512985.1:p.Val3049Ala | |
| XM_011514684.1:c.9077T>C | XP_011512986.1:p.Val3026Ala | |
| XM_011514685.1:c.9788T>C | XP_011512987.1:p.Val3263Ala | |
| XM_011514686.1:c.9788T>C | XP_011512988.1:p.Val3263Ala | |
| XM_011514687.1:c.9788T>C | XP_011512989.1:p.Val3263Ala | |
| XM_011514688.1:c.9788T>C | XP_011512990.1:p.Val3263Ala | |
| XM_011514690.1:c.3863T>C | XP_011512992.1:p.Val1288Ala | |
| XM_011514691.1:c.3863T>C | XP_011512993.1:p.Val1288Ala | |
| XM_011514680.3:c.9788T>C | XP_011512982.1:p.Val3263Ala | |
| XM_011514682.3:c.9650T>C | XP_011512984.1:p.Val3217Ala | |
| XM_011514683.3:c.9146T>C | XP_011512985.1:p.Val3049Ala | |
| XM_011514684.3:c.9077T>C | XP_011512986.1:p.Val3026Ala | |
| XM_011514686.2:c.9788T>C | XP_011512988.1:p.Val3263Ala | |
| XM_011514688.2:c.9788T>C | XP_011512990.1:p.Val3263Ala | |
| XM_011514690.3:c.3863T>C | XP_011512992.1:p.Val1288Ala | |
| XM_011514691.3:c.3863T>C | XP_011512993.1:p.Val1288Ala | |
| XM_017010944.2:c.9788T>C | XP_016866433.1:p.Val3263Ala | |
| XM_017010945.2:c.9713T>C | XP_016866434.1:p.Val3238Ala | |
| XM_017010946.2:c.9593T>C | XP_016866435.1:p.Val3198Ala | |
| XM_017010947.2:c.9524T>C | XP_016866436.1:p.Val3175Ala | |
| XM_017010948.2:c.9077T>C | XP_016866437.1:p.Val3026Ala | |
| XM_017010949.2:c.7928T>C | XP_016866438.1:p.Val2643Ala | |
| XM_017010950.1:c.9788T>C | XP_016866439.1:p.Val3263Ala | |
| XR_001743469.1:n.10064T>C | ||
| NM_138694.4:c.9788T>C MANE Select | NP_619639.3:p.Val3263Ala | |
| NM_170724.3:c.9788T>C | NP_733842.2:p.Val3263Ala |