UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs2129095488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152148678C>T , CM000669.2:g.152148678C>T | GRCh38 |
| NC_000007.13:g.151845763C>T , CM000669.1:g.151845763C>T | GRCh37 |
| NC_000007.12:g.151476696C>T | NCBI36 |
| NG_033948.1:g.292328G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682040.1:c.1437G>A | ||
| ENST00000682116.1:n.2381G>A | ||
| ENST00000682283.1:c.13420G>A | ENSP00000507485.1:p.Ala4474Thr | |
| ENST00000682629.1:n.2549G>A | ||
| ENST00000683120.1:n.8441G>A | ||
| ENST00000683178.1:c.3822G>A | ||
| ENST00000683200.1:c.10759G>A | ENSP00000508052.1:p.Ala3587Thr | |
| ENST00000683337.1:n.4879G>A | ||
| ENST00000683502.1:c.3894G>A | ||
| ENST00000683621.1:n.2015G>A | ||
| ENST00000683640.1:n.1965G>A | ||
| ENST00000684069.1:c.1666G>A | ENSP00000507650.1:p.Ala556Thr | |
| ENST00000684261.1:c.8146G>A | ENSP00000508097.1:p.Ala2716Thr | |
| ENST00000684391.1:n.7G>A | ||
| ENST00000684649.1:c.3894G>A | ||
| ENST00000262189.11:c.13249G>A MANE Select | ENSP00000262189.6:p.Ala4417Thr | |
| ENST00000360104.8:c.9036G>A | ||
| ENST00000418061.2:c.3891G>A | ||
| ENST00000424877.6:c.3825G>A | ||
| ENST00000679393.1:n.7960G>A | ||
| ENST00000679560.1:c.8149G>A | ENSP00000505094.1:p.Ala2717Thr | |
| ENST00000679882.1:c.12814G>A | ENSP00000506154.1:p.Ala4272Thr | |
| ENST00000680029.1:c.3826G>A | ||
| ENST00000680877.1:c.8149G>A | ENSP00000505724.1:p.Ala2717Thr | |
| ENST00000681923.1:n.2264G>A | ||
| ENST00000262189.10:c.13249G>A | ENSP00000262189.6:p.Ala4417Thr | |
| ENST00000355193.6:c.13249G>A | ENSP00000347325.3:p.Ala4417Thr | |
| ENST00000360104.7:c.5930G>A | ||
| ENST00000424877.5:c.3100G>A | ENSP00000410411.1:p.Ala1034Thr | |
| ENST00000473186.5:n.11131G>A | ||
| ENST00000558084.5:c.*10769G>A | ENSP00000453752.1:n.*10769G>A | |
| NM_170606.2:c.13249G>A | NP_733751.2:p.Ala4417Thr | |
| XM_005250025.3:c.13465G>A | XP_005250082.1:p.Ala4489Thr | |
| XM_005250026.2:c.13462G>A | XP_005250083.1:p.Ala4488Thr | |
| XM_005250027.3:c.13462G>A | XP_005250084.1:p.Ala4488Thr | |
| XM_005250028.3:c.13465G>A | XP_005250085.1:p.Ala4489Thr | |
| XM_005250031.3:c.13300G>A | XP_005250088.1:p.Ala4434Thr | |
| XM_006716077.2:c.13462G>A | XP_006716140.1:p.Ala4488Thr | |
| XM_006716078.2:c.13393G>A | XP_006716141.1:p.Ala4465Thr | |
| XM_006716079.2:c.13297G>A | XP_006716142.1:p.Ala4433Thr | |
| XM_011516450.1:c.13417G>A | XP_011514752.1:p.Ala4473Thr | |
| XM_011516451.1:c.13345G>A | XP_011514753.1:p.Ala4449Thr | |
| XM_011516452.1:c.13312G>A | XP_011514754.1:p.Ala4438Thr | |
| XM_011516453.1:c.13228G>A | XP_011514755.1:p.Ala4410Thr | |
| XM_011516454.1:c.12550G>A | XP_011514756.1:p.Ala4184Thr | |
| XM_011516455.1:c.11011G>A | XP_011514757.1:p.Ala3671Thr | |
| XM_011516456.1:c.13417G>A | XP_011514758.1:p.Ala4473Thr | |
| XM_005250025.4:c.13465G>A | XP_005250082.1:p.Ala4489Thr | |
| XM_005250026.3:c.13462G>A | XP_005250083.1:p.Ala4488Thr | |
| XM_005250027.4:c.13462G>A | XP_005250084.1:p.Ala4488Thr | |
| XM_005250028.4:c.13465G>A | XP_005250085.1:p.Ala4489Thr | |
| XM_005250031.4:c.13300G>A | XP_005250088.1:p.Ala4434Thr | |
| XM_006716077.3:c.13462G>A | XP_006716140.1:p.Ala4488Thr | |
| XM_006716078.3:c.13393G>A | XP_006716141.1:p.Ala4465Thr | |
| XM_006716079.3:c.13297G>A | XP_006716142.1:p.Ala4433Thr | |
| XM_011516450.2:c.13417G>A | XP_011514752.1:p.Ala4473Thr | |
| XM_011516451.2:c.13345G>A | XP_011514753.1:p.Ala4449Thr | |
| XM_011516452.2:c.13312G>A | XP_011514754.1:p.Ala4438Thr | |
| XM_011516453.2:c.13228G>A | XP_011514755.1:p.Ala4410Thr | |
| XM_011516454.2:c.12550G>A | XP_011514756.1:p.Ala4184Thr | |
| XM_011516456.2:c.13417G>A | XP_011514758.1:p.Ala4473Thr | |
| XM_017012480.1:c.13465G>A | XP_016867969.1:p.Ala4489Thr | |
| XM_017012481.1:c.13462G>A | XP_016867970.1:p.Ala4488Thr | |
| XM_017012482.1:c.13462G>A | XP_016867971.1:p.Ala4488Thr | |
| XM_017012483.1:c.13462G>A | XP_016867972.1:p.Ala4488Thr | |
| XM_017012484.1:c.13432G>A | XP_016867973.1:p.Ala4478Thr | |
| XM_017012485.1:c.13414G>A | XP_016867974.1:p.Ala4472Thr | |
| XM_017012486.1:c.13390G>A | XP_016867975.1:p.Ala4464Thr | |
| XM_017012487.1:c.13318G>A | XP_016867976.1:p.Ala4440Thr | |
| XM_017012488.1:c.13282G>A | XP_016867977.1:p.Ala4428Thr | |
| XM_017012489.1:c.10135G>A | XP_016867978.1:p.Ala3379Thr | |
| XM_017012490.2:c.9739G>A | XP_016867979.1:p.Ala3247Thr | |
| XM_024446852.1:c.13462G>A | XP_024302620.1:p.Ala4488Thr | |
| XM_024446853.1:c.13390G>A | XP_024302621.1:p.Ala4464Thr | |
| NM_170606.3:c.13249G>A MANE Select | NP_733751.2:p.Ala4417Thr |