Linked Data
dbSNP Id:
rs1401247629
gnomAD v2:
11-70319381-T-C
gnomAD v3:
11-70473276-T-C
gnomAD v4:
11-70473276-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473276T>C , CM000673.2:g.70473276T>C | GRCh38 |
| NC_000011.9:g.70319381T>C , CM000673.1:g.70319381T>C | GRCh37 |
| NC_000011.8:g.69997029T>C | NCBI36 |
| NG_042866.1:g.656521A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3376A>G | ENSP00000345193.7:p.Thr1126Ala | |
| ENST00000412252.6:c.921A>G | ENSP00000414876.2:n.921A>G | |
| ENST00000601538.6:c.5143A>G MANE Select | ENSP00000469689.2:p.Thr1715Ala | |
| ENST00000654939.1:c.2652A>G | ||
| ENST00000656230.1:c.4006A>G | ENSP00000499561.1:p.Thr1336Ala | |
| ENST00000659264.1:c.3433A>G | ENSP00000499270.1:p.Thr1145Ala | |
| ENST00000338508.8:c.3379A>G | ENSP00000345193.6:p.Thr1127Ala | |
| ENST00000357171.7:c.*147A>G | ENSP00000349694.4:n.*147A>G | |
| ENST00000409161.5:c.3355A>G | ENSP00000386491.1:p.Thr1119Ala | |
| ENST00000412252.5:c.919A>G | ||
| ENST00000423696.6:c.4006A>G | ENSP00000394536.2:p.Thr1336Ala | |
| ENST00000424924.5:c.2980A>G | ENSP00000402944.1:p.Thr994Ala | |
| ENST00000449833.6:c.3379A>G | ENSP00000399423.3:p.Thr1127Ala | |
| ENST00000601538.5:c.5143A>G | ENSP00000469689.2:p.Thr1715Ala | |
| ENST00000606715.3:n.1895A>G | ||
| NM_012309.4:c.5143A>G | NP_036441.2:p.Thr1715Ala | |
| NM_133266.4:c.3379A>G | NP_573573.2:p.Thr1127Ala | |
| NR_110766.1:n.997A>G | ||
| XM_005277930.2:c.5143A>G | XP_005277987.1:p.Thr1715Ala | |
| XM_005277932.2:c.4006A>G | XP_005277989.1:p.Thr1336Ala | |
| XM_006718478.2:c.5113A>G | XP_006718541.1:p.Thr1705Ala | |
| XM_011544854.1:c.5155A>G | XP_011543156.1:p.Thr1719Ala | |
| XM_011544855.1:c.5134A>G | XP_011543157.1:p.Thr1712Ala | |
| XM_011544856.1:c.5128A>G | XP_011543158.1:p.Thr1710Ala | |
| XM_011544857.1:c.5107A>G | XP_011543159.1:p.Thr1703Ala | |
| XM_011544859.1:c.4018A>G | XP_011543161.1:p.Thr1340Ala | |
| XM_005277932.3:c.4006A>G | XP_005277989.1:p.Thr1336Ala | |
| XM_017017387.1:c.5143A>G | XP_016872876.1:p.Thr1715Ala | |
| XM_017017388.1:c.5143A>G | XP_016872877.1:p.Thr1715Ala | |
| XM_017017389.1:c.5116A>G | XP_016872878.1:p.Thr1706Ala | |
| XM_017017390.1:c.3433A>G | XP_016872879.1:p.Thr1145Ala | |
| NM_133266.5:c.3379A>G | NP_573573.2:p.Thr1127Ala | |
| NR_110766.2:n.998A>G | ||
| NM_001379226.1:c.4006A>G | NP_001366155.1:p.Thr1336Ala | |
| NM_012309.5:c.5143A>G MANE Select | NP_036441.2:p.Thr1715Ala |