Linked Data
ClinVar Variation Id:
502746
dbSNP Id:
rs144106341
ExAC:
6:51656139 A / C
gnomAD v2:
6-51656139-A-C
gnomAD v3:
6-51791341-A-C
gnomAD v4:
6-51791341-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51791341A>C , CM000668.2:g.51791341A>C | GRCh38 |
| NC_000006.11:g.51656139A>C , CM000668.1:g.51656139A>C | GRCh37 |
| NC_000006.10:g.51764098A>C | NCBI36 |
| NG_008753.1:g.301285T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.8335T>G MANE Select | ENSP00000360158.3:p.Phe2779Val | |
| ENST00000340994.4:c.8335T>G | ENSP00000341097.4:p.Phe2779Val | |
| ENST00000371117.7:c.8335T>G | ENSP00000360158.3:p.Phe2779Val | |
| NM_138694.3:c.8335T>G | NP_619639.3:p.Phe2779Val | |
| NM_170724.2:c.8335T>G | NP_733842.2:p.Phe2779Val | |
| XM_011514679.1:c.8335T>G | XP_011512981.1:p.Phe2779Val | |
| XM_011514680.1:c.8335T>G | XP_011512982.1:p.Phe2779Val | |
| XM_011514681.1:c.8206T>G | XP_011512983.1:p.Phe2736Val | |
| XM_011514682.1:c.8303-15420T>G | XP_011512984.1:n.8303-15420T>G | |
| XM_011514683.1:c.7693T>G | XP_011512985.1:p.Phe2565Val | |
| XM_011514684.1:c.7624T>G | XP_011512986.1:p.Phe2542Val | |
| XM_011514685.1:c.8335T>G | XP_011512987.1:p.Phe2779Val | |
| XM_011514686.1:c.8335T>G | XP_011512988.1:p.Phe2779Val | |
| XM_011514687.1:c.8335T>G | XP_011512989.1:p.Phe2779Val | |
| XM_011514688.1:c.8335T>G | XP_011512990.1:p.Phe2779Val | |
| XM_011514689.1:c.*41T>G | XP_011512991.1:n.*41T>G | |
| XM_011514690.1:c.2410T>G | XP_011512992.1:p.Phe804Val | |
| XM_011514691.1:c.2410T>G | XP_011512993.1:p.Phe804Val | |
| XM_011514680.3:c.8335T>G | XP_011512982.1:p.Phe2779Val | |
| XM_011514682.3:c.8303-15420T>G | XP_011512984.1:n.8303-15420T>G | |
| XM_011514683.3:c.7693T>G | XP_011512985.1:p.Phe2565Val | |
| XM_011514684.3:c.7624T>G | XP_011512986.1:p.Phe2542Val | |
| XM_011514686.2:c.8335T>G | XP_011512988.1:p.Phe2779Val | |
| XM_011514688.2:c.8335T>G | XP_011512990.1:p.Phe2779Val | |
| XM_011514690.3:c.2410T>G | XP_011512992.1:p.Phe804Val | |
| XM_011514691.3:c.2410T>G | XP_011512993.1:p.Phe804Val | |
| XM_017010944.2:c.8335T>G | XP_016866433.1:p.Phe2779Val | |
| XM_017010945.2:c.8260T>G | XP_016866434.1:p.Phe2754Val | |
| XM_017010946.2:c.8140T>G | XP_016866435.1:p.Phe2714Val | |
| XM_017010947.2:c.8071T>G | XP_016866436.1:p.Phe2691Val | |
| XM_017010948.2:c.7624T>G | XP_016866437.1:p.Phe2542Val | |
| XM_017010949.2:c.6475T>G | XP_016866438.1:p.Phe2159Val | |
| XM_017010950.1:c.8335T>G | XP_016866439.1:p.Phe2779Val | |
| XM_017010951.1:c.8335T>G | XP_016866440.1:p.Phe2779Val | |
| XR_001743469.1:n.8611T>G | ||
| NM_138694.4:c.8335T>G MANE Select | NP_619639.3:p.Phe2779Val | |
| NM_170724.3:c.8335T>G | NP_733842.2:p.Phe2779Val |