Linked Data
dbSNP Id:
rs765808019
ExAC:
6:119245227 A / G
gnomAD v2:
6-119245227-A-G
gnomAD v4:
6-118924062-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.118924062A>G , CM000668.2:g.118924062A>G | GRCh38 |
| NC_000006.11:g.119245227A>G , CM000668.1:g.119245227A>G | GRCh37 |
| NC_000006.10:g.119286926A>G | NCBI36 |
| NG_041822.1:g.16101T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619706.5:c.370T>C MANE Select | ENSP00000480469.1:p.Leu124= | |
| ENST00000316068.7:c.370T>C | ENSP00000312870.3:p.Leu124= | |
| ENST00000316316.10:c.370T>C | ENSP00000314505.5:p.Leu124= | |
| ENST00000425154.6:c.370T>C | ENSP00000394776.2:p.Leu124= | |
| ENST00000619706.4:c.370T>C | ENSP00000480469.1:p.Leu124= | |
| NM_017696.2:c.370T>C | NP_060166.2:p.Leu124= | |
| NM_153255.4:c.370T>C | NP_694987.1:p.Leu124= | |
| NM_001378356.1:c.370T>C | NP_001365285.1:p.Leu124= | |
| NM_001378357.1:c.370T>C | NP_001365286.1:p.Leu124= | |
| NM_001378358.1:c.370T>C | NP_001365287.1:p.Leu124= | |
| NM_001378359.1:c.370T>C | NP_001365288.1:p.Leu124= | |
| NM_001378360.1:c.370T>C | NP_001365289.1:p.Leu124= | |
| NM_001378361.1:c.172T>C | NP_001365290.1:p.Leu58= | |
| NM_001378362.1:c.172T>C | NP_001365291.1:p.Leu58= | |
| NM_001378363.1:c.172T>C | NP_001365292.1:p.Leu58= | |
| NM_001378364.1:c.370T>C | NP_001365293.1:p.Leu124= | |
| NM_001378365.1:c.370T>C | NP_001365294.1:p.Leu124= | |
| NM_001378366.1:c.370T>C | NP_001365295.1:p.Leu124= | |
| NM_001378367.1:c.172T>C | NP_001365296.1:p.Leu58= | |
| NM_001378368.1:c.370T>C | NP_001365297.1:p.Leu124= | |
| NM_001378369.1:c.370T>C | NP_001365298.1:p.Leu124= | |
| NM_001378370.1:c.172T>C | NP_001365299.1:p.Leu58= | |
| NM_001378371.1:c.370T>C | NP_001365300.1:p.Leu124= | |
| NM_001378372.1:c.172T>C | NP_001365301.1:p.Leu58= | |
| NM_017696.3:c.370T>C MANE Select | NP_060166.2:p.Leu124= | |
| NM_153255.5:c.370T>C | NP_694987.1:p.Leu124= | |
| NR_165493.1:n.654T>C | ||
| NR_165494.1:n.788T>C |