Linked Data
gnomAD v4:
6-51659074-G-A
COSMIC:
COSM1080150
MyVariant Identifiers:
chr6:g.51523872G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659074G>A , CM000668.2:g.51659074G>A | GRCh38 |
| NC_000006.11:g.51523872G>A , CM000668.1:g.51523872G>A | GRCh37 |
| NC_000006.10:g.51631831G>A | NCBI36 |
| NG_008753.1:g.433552C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11052C>T MANE Select | ENSP00000360158.3:p.Asn3684= | |
| ENST00000371117.7:c.11052C>T | ENSP00000360158.3:p.Asn3684= | |
| NM_138694.3:c.11052C>T | NP_619639.3:p.Asn3684= | |
| XM_011514679.1:c.11052C>T | XP_011512981.1:p.Asn3684= | |
| XM_011514680.1:c.11052C>T | XP_011512982.1:p.Asn3684= | |
| XM_011514681.1:c.10923C>T | XP_011512983.1:p.Asn3641= | |
| XM_011514682.1:c.10914C>T | XP_011512984.1:p.Asn3638= | |
| XM_011514683.1:c.10410C>T | XP_011512985.1:p.Asn3470= | |
| XM_011514684.1:c.10341C>T | XP_011512986.1:p.Asn3447= | |
| XM_011514687.1:c.10157-9854C>T | XP_011512989.1:n.10157-9854C>T | |
| XM_011514690.1:c.5127C>T | XP_011512992.1:p.Asn1709= | |
| XM_011514691.1:c.5127C>T | XP_011512993.1:p.Asn1709= | |
| XR_926870.1:n.535+6701G>A | ||
| XR_926871.1:n.403+6701G>A | ||
| XR_926872.1:n.535+6701G>A | ||
| XM_011514680.3:c.11052C>T | XP_011512982.1:p.Asn3684= | |
| XM_011514682.3:c.10914C>T | XP_011512984.1:p.Asn3638= | |
| XM_011514683.3:c.10410C>T | XP_011512985.1:p.Asn3470= | |
| XM_011514684.3:c.10341C>T | XP_011512986.1:p.Asn3447= | |
| XM_011514690.3:c.5127C>T | XP_011512992.1:p.Asn1709= | |
| XM_011514691.3:c.5127C>T | XP_011512993.1:p.Asn1709= | |
| XM_017010944.2:c.11052C>T | XP_016866433.1:p.Asn3684= | |
| XM_017010945.2:c.10977C>T | XP_016866434.1:p.Asn3659= | |
| XM_017010946.2:c.10857C>T | XP_016866435.1:p.Asn3619= | |
| XM_017010947.2:c.10788C>T | XP_016866436.1:p.Asn3596= | |
| XM_017010948.2:c.10341C>T | XP_016866437.1:p.Asn3447= | |
| XM_017010949.2:c.9192C>T | XP_016866438.1:p.Asn3064= | |
| XR_001743469.1:n.11328C>T | ||
| XR_001744157.1:n.3145+6701G>A | ||
| XR_926870.2:n.3145+6701G>A | ||
| XR_926871.2:n.3013+6701G>A | ||
| XR_926872.2:n.3145+6701G>A | ||
| NM_138694.4:c.11052C>T MANE Select | NP_619639.3:p.Asn3684= |