Linked Data
ClinVar Variation Id:
499804
dbSNP Id:
rs149310653
ExAC:
6:51695774 G / T
gnomAD v2:
6-51695774-G-T
gnomAD v3:
6-51830976-G-T
gnomAD v4:
6-51830976-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51830976G>T , CM000668.2:g.51830976G>T | GRCh38 |
| NC_000006.11:g.51695774G>T , CM000668.1:g.51695774G>T | GRCh37 |
| NC_000006.10:g.51803733G>T | NCBI36 |
| NG_008753.1:g.261650C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.8187C>A MANE Select | ENSP00000360158.3:p.Ala2729= | |
| ENST00000340994.4:c.8187C>A | ENSP00000341097.4:p.Ala2729= | |
| ENST00000371117.7:c.8187C>A | ENSP00000360158.3:p.Ala2729= | |
| NM_138694.3:c.8187C>A | NP_619639.3:p.Ala2729= | |
| NM_170724.2:c.8187C>A | NP_733842.2:p.Ala2729= | |
| XM_011514679.1:c.8187C>A | XP_011512981.1:p.Ala2729= | |
| XM_011514680.1:c.8187C>A | XP_011512982.1:p.Ala2729= | |
| XM_011514681.1:c.8173+5428C>A | XP_011512983.1:n.8173+5428C>A | |
| XM_011514682.1:c.8187C>A | XP_011512984.1:p.Ala2729= | |
| XM_011514683.1:c.7545C>A | XP_011512985.1:p.Ala2515= | |
| XM_011514684.1:c.7476C>A | XP_011512986.1:p.Ala2492= | |
| XM_011514685.1:c.8187C>A | XP_011512987.1:p.Ala2729= | |
| XM_011514686.1:c.8187C>A | XP_011512988.1:p.Ala2729= | |
| XM_011514687.1:c.8187C>A | XP_011512989.1:p.Ala2729= | |
| XM_011514688.1:c.8187C>A | XP_011512990.1:p.Ala2729= | |
| XM_011514689.1:c.8187C>A | XP_011512991.1:p.Ala2729= | |
| XM_011514690.1:c.2262C>A | XP_011512992.1:p.Ala754= | |
| XM_011514691.1:c.2262C>A | XP_011512993.1:p.Ala754= | |
| XM_011514680.3:c.8187C>A | XP_011512982.1:p.Ala2729= | |
| XM_011514682.3:c.8187C>A | XP_011512984.1:p.Ala2729= | |
| XM_011514683.3:c.7545C>A | XP_011512985.1:p.Ala2515= | |
| XM_011514684.3:c.7476C>A | XP_011512986.1:p.Ala2492= | |
| XM_011514686.2:c.8187C>A | XP_011512988.1:p.Ala2729= | |
| XM_011514688.2:c.8187C>A | XP_011512990.1:p.Ala2729= | |
| XM_011514690.3:c.2262C>A | XP_011512992.1:p.Ala754= | |
| XM_011514691.3:c.2262C>A | XP_011512993.1:p.Ala754= | |
| XM_017010944.2:c.8187C>A | XP_016866433.1:p.Ala2729= | |
| XM_017010945.2:c.8112C>A | XP_016866434.1:p.Ala2704= | |
| XM_017010946.2:c.8107+16799C>A | XP_016866435.1:n.8107+16799C>A | |
| XM_017010947.2:c.7923C>A | XP_016866436.1:p.Ala2641= | |
| XM_017010948.2:c.7476C>A | XP_016866437.1:p.Ala2492= | |
| XM_017010949.2:c.6327C>A | XP_016866438.1:p.Ala2109= | |
| XM_017010950.1:c.8187C>A | XP_016866439.1:p.Ala2729= | |
| XM_017010951.1:c.8187C>A | XP_016866440.1:p.Ala2729= | |
| XM_017010952.1:c.8187C>A | XP_016866441.1:p.Ala2729= | |
| XR_001743469.1:n.8463C>A | ||
| NM_138694.4:c.8187C>A MANE Select | NP_619639.3:p.Ala2729= | |
| NM_170724.3:c.8187C>A | NP_733842.2:p.Ala2729= |