Linked Data
ClinVar Variation Id:
290109
dbSNP Id:
rs757479262
ExAC:
6:51484286 T / A
gnomAD v2:
6-51484286-T-A
gnomAD v3:
6-51619488-T-A
gnomAD v4:
6-51619488-T-A
COSMIC:
COSM451621
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51619488T>A , CM000668.2:g.51619488T>A | GRCh38 |
| NC_000006.11:g.51484286T>A , CM000668.1:g.51484286T>A | GRCh37 |
| NC_000006.10:g.51592245T>A | NCBI36 |
| NG_008753.1:g.473138A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11818A>T MANE Select | ENSP00000360158.3:p.Asn3940Tyr | |
| ENST00000371117.7:c.11818A>T | ENSP00000360158.3:p.Asn3940Tyr | |
| NM_138694.3:c.11818A>T | NP_619639.3:p.Asn3940Tyr | |
| XM_011514679.1:c.11818A>T | XP_011512981.1:p.Asn3940Tyr | |
| XM_011514680.1:c.11818A>T | XP_011512982.1:p.Asn3940Tyr | |
| XM_011514681.1:c.11689A>T | XP_011512983.1:p.Asn3897Tyr | |
| XM_011514682.1:c.11680A>T | XP_011512984.1:p.Asn3894Tyr | |
| XM_011514683.1:c.11176A>T | XP_011512985.1:p.Asn3726Tyr | |
| XM_011514684.1:c.11107A>T | XP_011512986.1:p.Asn3703Tyr | |
| XM_011514690.1:c.5893A>T | XP_011512992.1:p.Asn1965Tyr | |
| XM_011514691.1:c.5893A>T | XP_011512993.1:p.Asn1965Tyr | |
| XM_011514680.3:c.11818A>T | XP_011512982.1:p.Asn3940Tyr | |
| XM_011514682.3:c.11680A>T | XP_011512984.1:p.Asn3894Tyr | |
| XM_011514683.3:c.11176A>T | XP_011512985.1:p.Asn3726Tyr | |
| XM_011514684.3:c.11107A>T | XP_011512986.1:p.Asn3703Tyr | |
| XM_011514690.3:c.5893A>T | XP_011512992.1:p.Asn1965Tyr | |
| XM_011514691.3:c.5893A>T | XP_011512993.1:p.Asn1965Tyr | |
| XM_017010944.2:c.11818A>T | XP_016866433.1:p.Asn3940Tyr | |
| XM_017010945.2:c.11743A>T | XP_016866434.1:p.Asn3915Tyr | |
| XM_017010946.2:c.11623A>T | XP_016866435.1:p.Asn3875Tyr | |
| XM_017010947.2:c.11554A>T | XP_016866436.1:p.Asn3852Tyr | |
| XM_017010948.2:c.11107A>T | XP_016866437.1:p.Asn3703Tyr | |
| XM_017010949.2:c.9958A>T | XP_016866438.1:p.Asn3320Tyr | |
| NM_138694.4:c.11818A>T MANE Select | NP_619639.3:p.Asn3940Tyr |