Linked Data
ClinVar Variation Id:
167475
ClinVar RCV Id:
RCV000153703
RCV000169100
RCV000489179
RCV001292034
RCV001449953
RCV001844809
RCV003907452
dbSNP Id:
rs148932323
ExAC:
6:51611651 C / A
gnomAD v2:
6-51611651-C-A
gnomAD v3:
6-51746853-C-A
gnomAD v4:
6-51746853-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51746853C>A , CM000668.2:g.51746853C>A | GRCh38 |
| NC_000006.11:g.51611651C>A , CM000668.1:g.51611651C>A | GRCh37 |
| NC_000006.10:g.51719610C>A | NCBI36 |
| NG_008753.1:g.345773G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.9866G>T MANE Select | ENSP00000360158.3:p.Ser3289Ile | |
| ENST00000340994.4:c.9866G>T | ENSP00000341097.4:p.Ser3289Ile | |
| ENST00000371117.7:c.9866G>T | ENSP00000360158.3:p.Ser3289Ile | |
| NM_138694.3:c.9866G>T | NP_619639.3:p.Ser3289Ile | |
| NM_170724.2:c.9866G>T | NP_733842.2:p.Ser3289Ile | |
| XM_011514679.1:c.9866G>T | XP_011512981.1:p.Ser3289Ile | |
| XM_011514680.1:c.9866G>T | XP_011512982.1:p.Ser3289Ile | |
| XM_011514681.1:c.9737G>T | XP_011512983.1:p.Ser3246Ile | |
| XM_011514682.1:c.9728G>T | XP_011512984.1:p.Ser3243Ile | |
| XM_011514683.1:c.9224G>T | XP_011512985.1:p.Ser3075Ile | |
| XM_011514684.1:c.9155G>T | XP_011512986.1:p.Ser3052Ile | |
| XM_011514685.1:c.9866G>T | XP_011512987.1:p.Ser3289Ile | |
| XM_011514686.1:c.9866G>T | XP_011512988.1:p.Ser3289Ile | |
| XM_011514687.1:c.9866G>T | XP_011512989.1:p.Ser3289Ile | |
| XM_011514688.1:c.*13G>T | XP_011512990.1:n.*13G>T | |
| XM_011514690.1:c.3941G>T | XP_011512992.1:p.Ser1314Ile | |
| XM_011514691.1:c.3941G>T | XP_011512993.1:p.Ser1314Ile | |
| XM_011514680.3:c.9866G>T | XP_011512982.1:p.Ser3289Ile | |
| XM_011514682.3:c.9728G>T | XP_011512984.1:p.Ser3243Ile | |
| XM_011514683.3:c.9224G>T | XP_011512985.1:p.Ser3075Ile | |
| XM_011514684.3:c.9155G>T | XP_011512986.1:p.Ser3052Ile | |
| XM_011514686.2:c.9866G>T | XP_011512988.1:p.Ser3289Ile | |
| XM_011514688.2:c.*13G>T | XP_011512990.1:n.*13G>T | |
| XM_011514690.3:c.3941G>T | XP_011512992.1:p.Ser1314Ile | |
| XM_011514691.3:c.3941G>T | XP_011512993.1:p.Ser1314Ile | |
| XM_017010944.2:c.9866G>T | XP_016866433.1:p.Ser3289Ile | |
| XM_017010945.2:c.9791G>T | XP_016866434.1:p.Ser3264Ile | |
| XM_017010946.2:c.9671G>T | XP_016866435.1:p.Ser3224Ile | |
| XM_017010947.2:c.9602G>T | XP_016866436.1:p.Ser3201Ile | |
| XM_017010948.2:c.9155G>T | XP_016866437.1:p.Ser3052Ile | |
| XM_017010949.2:c.8006G>T | XP_016866438.1:p.Ser2669Ile | |
| XM_017010950.1:c.9866G>T | XP_016866439.1:p.Ser3289Ile | |
| XR_001743469.1:n.10142G>T | ||
| NM_138694.4:c.9866G>T MANE Select | NP_619639.3:p.Ser3289Ile | |
| NM_170724.3:c.9866G>T | NP_733842.2:p.Ser3289Ile |