Linked Data
ClinVar Variation Id:
189143
dbSNP Id:
rs181208607
ExAC:
6:51712764 G / T
gnomAD v2:
6-51712764-G-T
gnomAD v3:
6-51847966-G-T
gnomAD v4:
6-51847966-G-T
PubMed:
PMID:19940939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51847966G>T , CM000668.2:g.51847966G>T | GRCh38 |
| NC_000006.11:g.51712764G>T , CM000668.1:g.51712764G>T | GRCh37 |
| NC_000006.10:g.51820723G>T | NCBI36 |
| NG_008753.1:g.244660C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371117.8:c.7916C>A MANE Select | ENSP00000360158.3:p.Ser2639Ter | |
| ENST00000340994.4:c.7916C>A | ENSP00000341097.4:p.Ser2639Ter | |
| ENST00000371117.7:c.7916C>A | ENSP00000360158.3:p.Ser2639Ter | |
| NM_138694.3:c.7916C>A | NP_619639.3:p.Ser2639Ter | |
| NM_170724.2:c.7916C>A | NP_733842.2:p.Ser2639Ter | |
| XM_011514679.1:c.7916C>A | XP_011512981.1:p.Ser2639Ter | |
| XM_011514680.1:c.7916C>A | XP_011512982.1:p.Ser2639Ter | |
| XM_011514681.1:c.7916C>A | XP_011512983.1:p.Ser2639Ter | |
| XM_011514682.1:c.7916C>A | XP_011512984.1:p.Ser2639Ter | |
| XM_011514683.1:c.7274C>A | XP_011512985.1:p.Ser2425Ter | |
| XM_011514684.1:c.7205C>A | XP_011512986.1:p.Ser2402Ter | |
| XM_011514685.1:c.7916C>A | XP_011512987.1:p.Ser2639Ter | |
| XM_011514686.1:c.7916C>A | XP_011512988.1:p.Ser2639Ter | |
| XM_011514687.1:c.7916C>A | XP_011512989.1:p.Ser2639Ter | |
| XM_011514688.1:c.7916C>A | XP_011512990.1:p.Ser2639Ter | |
| XM_011514689.1:c.7916C>A | XP_011512991.1:p.Ser2639Ter | |
| XM_011514690.1:c.1991C>A | XP_011512992.1:p.Ser664Ter | |
| XM_011514691.1:c.1991C>A | XP_011512993.1:p.Ser664Ter | |
| XM_011514680.3:c.7916C>A | XP_011512982.1:p.Ser2639Ter | |
| XM_011514682.3:c.7916C>A | XP_011512984.1:p.Ser2639Ter | |
| XM_011514683.3:c.7274C>A | XP_011512985.1:p.Ser2425Ter | |
| XM_011514684.3:c.7205C>A | XP_011512986.1:p.Ser2402Ter | |
| XM_011514686.2:c.7916C>A | XP_011512988.1:p.Ser2639Ter | |
| XM_011514688.2:c.7916C>A | XP_011512990.1:p.Ser2639Ter | |
| XM_011514690.3:c.1991C>A | XP_011512992.1:p.Ser664Ter | |
| XM_011514691.3:c.1991C>A | XP_011512993.1:p.Ser664Ter | |
| XM_017010944.2:c.7916C>A | XP_016866433.1:p.Ser2639Ter | |
| XM_017010945.2:c.7841C>A | XP_016866434.1:p.Ser2614Ter | |
| XM_017010946.2:c.7916C>A | XP_016866435.1:p.Ser2639Ter | |
| XM_017010947.2:c.7652C>A | XP_016866436.1:p.Ser2551Ter | |
| XM_017010948.2:c.7205C>A | XP_016866437.1:p.Ser2402Ter | |
| XM_017010949.2:c.6056C>A | XP_016866438.1:p.Ser2019Ter | |
| XM_017010950.1:c.7916C>A | XP_016866439.1:p.Ser2639Ter | |
| XM_017010951.1:c.7916C>A | XP_016866440.1:p.Ser2639Ter | |
| XM_017010952.1:c.7916C>A | XP_016866441.1:p.Ser2639Ter | |
| XR_001743469.1:n.8192C>A | ||
| NM_138694.4:c.7916C>A MANE Select | NP_619639.3:p.Ser2639Ter | |
| NM_170724.3:c.7916C>A | NP_733842.2:p.Ser2639Ter |