Linked Data
dbSNP Id:
rs745999057
ExAC:
2:44104810 G / A
gnomAD v2:
2-44104810-G-A
gnomAD v4:
2-43877671-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877671G>A , CM000664.2:g.43877671G>A | GRCh38 |
| NC_000002.11:g.44104810G>A , CM000664.1:g.44104810G>A | GRCh37 |
| NC_000002.10:g.43958314G>A | NCBI36 |
| NG_008884.1:g.43708G>A | |
| NG_008884.2:g.50730G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1867G>A MANE Select | ENSP00000272286.2:p.Ala623Thr | |
| ENST00000272286.2:c.1867G>A | ENSP00000272286.2:p.Ala623Thr | |
| NM_022437.2:c.1867G>A | NP_071882.1:p.Ala623Thr | |
| XM_005264483.2:c.1864G>A | XP_005264540.1:p.Ala622Thr | |
| XM_011533029.1:c.1879G>A | XP_011531331.1:p.Ala627Thr | |
| XM_011533030.1:c.1876G>A | XP_011531332.1:p.Ala626Thr | |
| XM_011533031.1:c.1651G>A | XP_011531333.1:p.Ala551Thr | |
| XR_939707.1:n.2369G>A | ||
| NM_001357321.1:c.1864G>A | NP_001344250.1:p.Ala622Thr | |
| XM_011533029.2:c.1879G>A | XP_011531331.1:p.Ala627Thr | |
| XM_011533030.2:c.1876G>A | XP_011531332.1:p.Ala626Thr | |
| XR_001738891.1:n.2383G>A | ||
| XR_939707.2:n.2383G>A | ||
| NM_022437.3:c.1867G>A MANE Select | NP_071882.1:p.Ala623Thr | |
| NM_001357321.2:c.1864G>A | NP_001344250.1:p.Ala622Thr |