Linked Data
ClinVar Variation Id:
432135
dbSNP Id:
rs757946548
ExAC:
6:51613118 G / T
gnomAD v2:
6-51613118-G-T
gnomAD v3:
6-51748320-G-T
gnomAD v4:
6-51748320-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51748320G>T , CM000668.2:g.51748320G>T | GRCh38 |
| NC_000006.11:g.51613118G>T , CM000668.1:g.51613118G>T | GRCh37 |
| NC_000006.10:g.51721077G>T | NCBI36 |
| NG_008753.1:g.344306C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.9296C>A MANE Select | ENSP00000360158.3:p.Ser3099Ter | |
| ENST00000340994.4:c.9296C>A | ENSP00000341097.4:p.Ser3099Ter | |
| ENST00000371117.7:c.9296C>A | ENSP00000360158.3:p.Ser3099Ter | |
| NM_138694.3:c.9296C>A | NP_619639.3:p.Ser3099Ter | |
| NM_170724.2:c.9296C>A | NP_733842.2:p.Ser3099Ter | |
| XM_011514679.1:c.9296C>A | XP_011512981.1:p.Ser3099Ter | |
| XM_011514680.1:c.9296C>A | XP_011512982.1:p.Ser3099Ter | |
| XM_011514681.1:c.9167C>A | XP_011512983.1:p.Ser3056Ter | |
| XM_011514682.1:c.9158C>A | XP_011512984.1:p.Ser3053Ter | |
| XM_011514683.1:c.8654C>A | XP_011512985.1:p.Ser2885Ter | |
| XM_011514684.1:c.8585C>A | XP_011512986.1:p.Ser2862Ter | |
| XM_011514685.1:c.9296C>A | XP_011512987.1:p.Ser3099Ter | |
| XM_011514686.1:c.9296C>A | XP_011512988.1:p.Ser3099Ter | |
| XM_011514687.1:c.9296C>A | XP_011512989.1:p.Ser3099Ter | |
| XM_011514688.1:c.9296C>A | XP_011512990.1:p.Ser3099Ter | |
| XM_011514690.1:c.3371C>A | XP_011512992.1:p.Ser1124Ter | |
| XM_011514691.1:c.3371C>A | XP_011512993.1:p.Ser1124Ter | |
| XM_011514680.3:c.9296C>A | XP_011512982.1:p.Ser3099Ter | |
| XM_011514682.3:c.9158C>A | XP_011512984.1:p.Ser3053Ter | |
| XM_011514683.3:c.8654C>A | XP_011512985.1:p.Ser2885Ter | |
| XM_011514684.3:c.8585C>A | XP_011512986.1:p.Ser2862Ter | |
| XM_011514686.2:c.9296C>A | XP_011512988.1:p.Ser3099Ter | |
| XM_011514688.2:c.9296C>A | XP_011512990.1:p.Ser3099Ter | |
| XM_011514690.3:c.3371C>A | XP_011512992.1:p.Ser1124Ter | |
| XM_011514691.3:c.3371C>A | XP_011512993.1:p.Ser1124Ter | |
| XM_017010944.2:c.9296C>A | XP_016866433.1:p.Ser3099Ter | |
| XM_017010945.2:c.9221C>A | XP_016866434.1:p.Ser3074Ter | |
| XM_017010946.2:c.9101C>A | XP_016866435.1:p.Ser3034Ter | |
| XM_017010947.2:c.9032C>A | XP_016866436.1:p.Ser3011Ter | |
| XM_017010948.2:c.8585C>A | XP_016866437.1:p.Ser2862Ter | |
| XM_017010949.2:c.7436C>A | XP_016866438.1:p.Ser2479Ter | |
| XM_017010950.1:c.9296C>A | XP_016866439.1:p.Ser3099Ter | |
| XR_001743469.1:n.9572C>A | ||
| NM_138694.4:c.9296C>A MANE Select | NP_619639.3:p.Ser3099Ter | |
| NM_170724.3:c.9296C>A | NP_733842.2:p.Ser3099Ter |