Linked Data
ClinVar Variation Id:
1083396
ClinVar RCV Id:
RCV001400032
dbSNP Id:
rs2150277302
MyVariant Identifiers:
chr6:g.51491811G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51627013G>A , CM000668.2:g.51627013G>A | GRCh38 |
| NC_000006.11:g.51491811G>A , CM000668.1:g.51491811G>A | GRCh37 |
| NC_000006.10:g.51599770G>A | NCBI36 |
| NG_008753.1:g.465613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11769C>T MANE Select | ENSP00000360158.3:p.Asp3923= | |
| ENST00000371117.7:c.11769C>T | ENSP00000360158.3:p.Asp3923= | |
| NM_138694.3:c.11769C>T | NP_619639.3:p.Asp3923= | |
| XM_011514679.1:c.11769C>T | XP_011512981.1:p.Asp3923= | |
| XM_011514680.1:c.11769C>T | XP_011512982.1:p.Asp3923= | |
| XM_011514681.1:c.11640C>T | XP_011512983.1:p.Asp3880= | |
| XM_011514682.1:c.11631C>T | XP_011512984.1:p.Asp3877= | |
| XM_011514683.1:c.11127C>T | XP_011512985.1:p.Asp3709= | |
| XM_011514684.1:c.11058C>T | XP_011512986.1:p.Asp3686= | |
| XM_011514690.1:c.5844C>T | XP_011512992.1:p.Asp1948= | |
| XM_011514691.1:c.5844C>T | XP_011512993.1:p.Asp1948= | |
| XM_011514680.3:c.11769C>T | XP_011512982.1:p.Asp3923= | |
| XM_011514682.3:c.11631C>T | XP_011512984.1:p.Asp3877= | |
| XM_011514683.3:c.11127C>T | XP_011512985.1:p.Asp3709= | |
| XM_011514684.3:c.11058C>T | XP_011512986.1:p.Asp3686= | |
| XM_011514690.3:c.5844C>T | XP_011512992.1:p.Asp1948= | |
| XM_011514691.3:c.5844C>T | XP_011512993.1:p.Asp1948= | |
| XM_017010944.2:c.11769C>T | XP_016866433.1:p.Asp3923= | |
| XM_017010945.2:c.11694C>T | XP_016866434.1:p.Asp3898= | |
| XM_017010946.2:c.11574C>T | XP_016866435.1:p.Asp3858= | |
| XM_017010947.2:c.11505C>T | XP_016866436.1:p.Asp3835= | |
| XM_017010948.2:c.11058C>T | XP_016866437.1:p.Asp3686= | |
| XM_017010949.2:c.9909C>T | XP_016866438.1:p.Asp3303= | |
| NM_138694.4:c.11769C>T MANE Select | NP_619639.3:p.Asp3923= |