Linked Data
dbSNP Id:
rs760200576
ExAC:
2:25965213 G / T
gnomAD v2:
2-25965213-G-T
gnomAD v4:
2-25742344-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742344G>T , CM000664.2:g.25742344G>T | GRCh38 |
| NC_000002.11:g.25965213G>T , CM000664.1:g.25965213G>T | GRCh37 |
| NC_000002.10:g.25818717G>T | NCBI36 |
| NG_052995.1:g.141173C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.3990C>A | ENSP00000337250.5:p.Ile1330= | |
| ENST00000435504.9:c.3993C>A MANE Select | ENSP00000391447.3:p.Ile1331= | |
| ENST00000336112.8:c.3909C>A | ENSP00000337250.4:p.Ile1303= | |
| ENST00000404843.5:c.2442C>A | ENSP00000383920.1:p.Ile814= | |
| ENST00000435504.8:c.3993C>A | ENSP00000391447.3:p.Ile1331= | |
| NM_018263.4:c.3993C>A | NP_060733.4:p.Ile1331= | |
| XM_006712039.2:c.3627C>A | XP_006712102.1:p.Ile1209= | |
| XM_006712040.1:c.3213C>A | XP_006712103.1:p.Ile1071= | |
| XM_011532950.1:c.3990C>A | XP_011531252.1:p.Ile1330= | |
| XM_011532951.1:c.3819C>A | XP_011531253.1:p.Ile1273= | |
| NM_018263.5:c.3993C>A | NP_060733.4:p.Ile1331= | |
| XM_006712039.3:c.3627C>A | XP_006712102.1:p.Ile1209= | |
| XM_006712040.2:c.3213C>A | XP_006712103.1:p.Ile1071= | |
| XM_011532950.3:c.3990C>A | XP_011531252.1:p.Ile1330= | |
| XM_011532951.2:c.3819C>A | XP_011531253.1:p.Ile1273= | |
| XM_017004430.1:c.3213C>A | XP_016859919.1:p.Ile1071= | |
| XM_024452974.1:c.4173C>A | XP_024308742.1:p.Ile1391= | |
| NM_001369346.1:c.3819C>A | NP_001356275.1:p.Ile1273= | |
| NM_001369347.1:c.3213C>A | NP_001356276.1:p.Ile1071= | |
| NM_018263.6:c.3993C>A MANE Select | NP_060733.4:p.Ile1331= |