Linked Data
ClinVar Variation Id:
799349
ClinVar RCV Id:
RCV001396310
dbSNP Id:
rs1404074777
gnomAD v3:
6-51748151-A-G
gnomAD v4:
6-51748151-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51748151A>G , CM000668.2:g.51748151A>G | GRCh38 |
| NC_000006.11:g.51612949A>G , CM000668.1:g.51612949A>G | GRCh37 |
| NC_000006.10:g.51720908A>G | NCBI36 |
| NG_008753.1:g.344475T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.9465T>C MANE Select | ENSP00000360158.3:p.Tyr3155= | |
| ENST00000340994.4:c.9465T>C | ENSP00000341097.4:p.Tyr3155= | |
| ENST00000371117.7:c.9465T>C | ENSP00000360158.3:p.Tyr3155= | |
| NM_138694.3:c.9465T>C | NP_619639.3:p.Tyr3155= | |
| NM_170724.2:c.9465T>C | NP_733842.2:p.Tyr3155= | |
| XM_011514679.1:c.9465T>C | XP_011512981.1:p.Tyr3155= | |
| XM_011514680.1:c.9465T>C | XP_011512982.1:p.Tyr3155= | |
| XM_011514681.1:c.9336T>C | XP_011512983.1:p.Tyr3112= | |
| XM_011514682.1:c.9327T>C | XP_011512984.1:p.Tyr3109= | |
| XM_011514683.1:c.8823T>C | XP_011512985.1:p.Tyr2941= | |
| XM_011514684.1:c.8754T>C | XP_011512986.1:p.Tyr2918= | |
| XM_011514685.1:c.9465T>C | XP_011512987.1:p.Tyr3155= | |
| XM_011514686.1:c.9465T>C | XP_011512988.1:p.Tyr3155= | |
| XM_011514687.1:c.9465T>C | XP_011512989.1:p.Tyr3155= | |
| XM_011514688.1:c.9465T>C | XP_011512990.1:p.Tyr3155= | |
| XM_011514690.1:c.3540T>C | XP_011512992.1:p.Tyr1180= | |
| XM_011514691.1:c.3540T>C | XP_011512993.1:p.Tyr1180= | |
| XM_011514680.3:c.9465T>C | XP_011512982.1:p.Tyr3155= | |
| XM_011514682.3:c.9327T>C | XP_011512984.1:p.Tyr3109= | |
| XM_011514683.3:c.8823T>C | XP_011512985.1:p.Tyr2941= | |
| XM_011514684.3:c.8754T>C | XP_011512986.1:p.Tyr2918= | |
| XM_011514686.2:c.9465T>C | XP_011512988.1:p.Tyr3155= | |
| XM_011514688.2:c.9465T>C | XP_011512990.1:p.Tyr3155= | |
| XM_011514690.3:c.3540T>C | XP_011512992.1:p.Tyr1180= | |
| XM_011514691.3:c.3540T>C | XP_011512993.1:p.Tyr1180= | |
| XM_017010944.2:c.9465T>C | XP_016866433.1:p.Tyr3155= | |
| XM_017010945.2:c.9390T>C | XP_016866434.1:p.Tyr3130= | |
| XM_017010946.2:c.9270T>C | XP_016866435.1:p.Tyr3090= | |
| XM_017010947.2:c.9201T>C | XP_016866436.1:p.Tyr3067= | |
| XM_017010948.2:c.8754T>C | XP_016866437.1:p.Tyr2918= | |
| XM_017010949.2:c.7605T>C | XP_016866438.1:p.Tyr2535= | |
| XM_017010950.1:c.9465T>C | XP_016866439.1:p.Tyr3155= | |
| XR_001743469.1:n.9741T>C | ||
| NM_138694.4:c.9465T>C MANE Select | NP_619639.3:p.Tyr3155= | |
| NM_170724.3:c.9465T>C | NP_733842.2:p.Tyr3155= |