Linked Data
dbSNP Id:
rs748090402
ExAC:
6:51524801 T / G
gnomAD v2:
6-51524801-T-G
gnomAD v4:
6-51660003-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51660003T>G , CM000668.2:g.51660003T>G | GRCh38 |
| NC_000006.11:g.51524801T>G , CM000668.1:g.51524801T>G | GRCh37 |
| NC_000006.10:g.51632760T>G | NCBI36 |
| NG_008753.1:g.432623A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10157-34A>C MANE Select | ENSP00000360158.3:n.10157-34A>C | |
| ENST00000371117.7:c.10157-34A>C | ENSP00000360158.3:n.10157-34A>C | |
| NM_138694.3:c.10157-34A>C | NP_619639.3:n.10157-34A>C | |
| XM_011514679.1:c.10157-34A>C | XP_011512981.1:n.10157-34A>C | |
| XM_011514680.1:c.10157-34A>C | XP_011512982.1:n.10157-34A>C | |
| XM_011514681.1:c.10028-34A>C | XP_011512983.1:n.10028-34A>C | |
| XM_011514682.1:c.10019-34A>C | XP_011512984.1:n.10019-34A>C | |
| XM_011514683.1:c.9515-34A>C | XP_011512985.1:n.9515-34A>C | |
| XM_011514684.1:c.9446-34A>C | XP_011512986.1:n.9446-34A>C | |
| XM_011514687.1:c.10157-10783A>C | XP_011512989.1:n.10157-10783A>C | |
| XM_011514690.1:c.4232-34A>C | XP_011512992.1:n.4232-34A>C | |
| XM_011514691.1:c.4232-34A>C | XP_011512993.1:n.4232-34A>C | |
| XR_926870.1:n.535+7630T>G | ||
| XR_926871.1:n.403+7630T>G | ||
| XR_926872.1:n.535+7630T>G | ||
| XM_011514680.3:c.10157-34A>C | XP_011512982.1:n.10157-34A>C | |
| XM_011514682.3:c.10019-34A>C | XP_011512984.1:n.10019-34A>C | |
| XM_011514683.3:c.9515-34A>C | XP_011512985.1:n.9515-34A>C | |
| XM_011514684.3:c.9446-34A>C | XP_011512986.1:n.9446-34A>C | |
| XM_011514690.3:c.4232-34A>C | XP_011512992.1:n.4232-34A>C | |
| XM_011514691.3:c.4232-34A>C | XP_011512993.1:n.4232-34A>C | |
| XM_017010944.2:c.10157-34A>C | XP_016866433.1:n.10157-34A>C | |
| XM_017010945.2:c.10082-34A>C | XP_016866434.1:n.10082-34A>C | |
| XM_017010946.2:c.9962-34A>C | XP_016866435.1:n.9962-34A>C | |
| XM_017010947.2:c.9893-34A>C | XP_016866436.1:n.9893-34A>C | |
| XM_017010948.2:c.9446-34A>C | XP_016866437.1:n.9446-34A>C | |
| XM_017010949.2:c.8297-34A>C | XP_016866438.1:n.8297-34A>C | |
| XR_001743469.1:n.10433-34A>C | ||
| XR_001744157.1:n.3145+7630T>G | ||
| XR_926870.2:n.3145+7630T>G | ||
| XR_926871.2:n.3013+7630T>G | ||
| XR_926872.2:n.3145+7630T>G | ||
| NM_138694.4:c.10157-34A>C MANE Select | NP_619639.3:n.10157-34A>C |