Linked Data
dbSNP Id:
rs562007112
ExAC:
11:71936199 G / A
gnomAD v2:
11-71936199-G-A
gnomAD v3:
11-72225155-G-A
gnomAD v4:
11-72225155-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72225155G>A , CM000673.2:g.72225155G>A | GRCh38 |
| NC_000011.9:g.71936199G>A , CM000673.1:g.71936199G>A | GRCh37 |
| NC_000011.8:g.71613847G>A | NCBI36 |
| NG_023253.1:g.5318G>A | |
| NG_023253.2:g.5318G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.171G>A MANE Select | ENSP00000298229.2:p.Ala57= | |
| ENST00000298229.6:c.171G>A | ENSP00000298229.2:p.Ala57= | |
| ENST00000541544.1:n.87G>A | ||
| NM_001567.3:c.171G>A | NP_001558.3:p.Ala57= | |
| XM_005273978.3:c.171G>A | XP_005274035.1:p.Ala57= | |
| XM_005273979.3:c.171G>A | XP_005274036.1:p.Ala57= | |
| XM_011544999.1:c.171G>A | XP_011543301.1:p.Ala57= | |
| XM_011545000.1:c.171G>A | XP_011543302.1:p.Ala57= | |
| XM_005273979.4:c.171G>A | XP_005274036.1:p.Ala57= | |
| XM_011544999.2:c.171G>A | XP_011543301.1:p.Ala57= | |
| XM_024448501.1:c.171G>A | XP_024304269.1:p.Ala57= | |
| XM_024448502.1:c.171G>A | XP_024304270.1:p.Ala57= | |
| XM_024448503.1:c.50G>A | XP_024304271.1:p.Arg17His | |
| XM_024448504.1:c.171G>A | XP_024304272.1:p.Ala57= | |
| XM_024448505.1:c.171G>A | XP_024304273.1:p.Ala57= | |
| NM_001567.4:c.171G>A MANE Select | NP_001558.3:p.Ala57= |