Linked Data
dbSNP Id:
rs768561508
ExAC:
5:37153892 T / C
gnomAD v2:
5-37153892-T-C
gnomAD v4:
5-37153790-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37153790T>C , CM000667.2:g.37153790T>C | GRCh38 |
| NC_000005.9:g.37153892T>C , CM000667.1:g.37153892T>C | GRCh37 |
| NC_000005.8:g.37189649T>C | NCBI36 |
| NG_032772.1:g.100639A>G | |
| NG_032772.2:g.100639A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.1322A>G | ||
| ENST00000651892.2:c.8323A>G MANE Select | ENSP00000498265.2:p.Ile2775Val | |
| ENST00000425232.6:c.8161A>G | ENSP00000389014.2:p.Ile2721Val | |
| ENST00000508244.5:c.8161A>G | ENSP00000421690.1:p.Ile2721Val | |
| ENST00000508405.1:n.55A>G | ||
| ENST00000509849.5:c.5335A>G | ENSP00000426337.1:p.Ile1779Val | |
| ENST00000509957.5:n.565A>G | ||
| ENST00000511824.2:c.1437A>G | ||
| ENST00000514429.5:c.5359A>G | ENSP00000424223.1:p.Ile1787Val | |
| NM_023073.3:c.8161A>G | NP_075561.3:p.Ile2721Val | |
| XM_005248345.2:c.8323A>G | XP_005248402.1:p.Ile2775Val | |
| XM_005248346.2:c.8320A>G | XP_005248403.1:p.Ile2774Val | |
| XM_005248347.2:c.8320A>G | XP_005248404.1:p.Ile2774Val | |
| XM_005248349.2:c.8212A>G | XP_005248406.1:p.Ile2738Val | |
| XM_005248350.2:c.8194A>G | XP_005248407.1:p.Ile2732Val | |
| XM_005248353.3:c.4966A>G | XP_005248410.1:p.Ile1656Val | |
| XM_006714489.2:c.8323A>G | XP_006714552.1:p.Ile2775Val | |
| XM_006714491.2:c.2896A>G | XP_006714554.1:p.Ile966Val | |
| XM_011514085.1:c.8323A>G | XP_011512387.1:p.Ile2775Val | |
| XM_011514086.1:c.8323A>G | XP_011512388.1:p.Ile2775Val | |
| XM_011514087.1:c.8269A>G | XP_011512389.1:p.Ile2757Val | |
| XM_011514088.1:c.8215A>G | XP_011512390.1:p.Ile2739Val | |
| XM_011514089.1:c.8323A>G | XP_011512391.1:p.Ile2775Val | |
| XM_011514090.1:c.8005A>G | XP_011512392.1:p.Ile2669Val | |
| XM_011514091.1:c.7651A>G | XP_011512393.1:p.Ile2551Val | |
| XM_011514092.1:c.8323A>G | XP_011512394.1:p.Ile2775Val | |
| XM_011514094.1:c.5548A>G | XP_011512396.1:p.Ile1850Val | |
| XR_427661.2:n.8498A>G | ||
| XR_925644.1:n.8498A>G | ||
| XM_005248345.4:c.8323A>G | XP_005248402.1:p.Ile2775Val | |
| XM_005248346.4:c.8320A>G | XP_005248403.1:p.Ile2774Val | |
| XM_005248347.4:c.8320A>G | XP_005248404.1:p.Ile2774Val | |
| XM_005248349.4:c.8212A>G | XP_005248406.1:p.Ile2738Val | |
| XM_005248350.4:c.8194A>G | XP_005248407.1:p.Ile2732Val | |
| XM_006714491.3:c.2896A>G | XP_006714554.1:p.Ile966Val | |
| XM_011514085.3:c.8323A>G | XP_011512387.1:p.Ile2775Val | |
| XM_011514086.3:c.8323A>G | XP_011512388.1:p.Ile2775Val | |
| XM_011514087.2:c.8269A>G | XP_011512389.1:p.Ile2757Val | |
| XM_011514088.2:c.8215A>G | XP_011512390.1:p.Ile2739Val | |
| XM_011514089.2:c.8323A>G | XP_011512391.1:p.Ile2775Val | |
| XM_011514090.3:c.8005A>G | XP_011512392.1:p.Ile2669Val | |
| XM_011514092.2:c.8323A>G | XP_011512394.1:p.Ile2775Val | |
| XM_011514094.2:c.5548A>G | XP_011512396.1:p.Ile1850Val | |
| XM_017009760.1:c.8134A>G | XP_016865249.1:p.Ile2712Val | |
| XM_017009761.2:c.8134A>G | XP_016865250.1:p.Ile2712Val | |
| XM_017009763.1:c.7330A>G | XP_016865252.1:p.Ile2444Val | |
| XM_017009765.1:c.7135A>G | XP_016865254.1:p.Ile2379Val | |
| XM_017009766.1:c.4966A>G | XP_016865255.1:p.Ile1656Val | |
| XM_024446183.1:c.8134A>G | XP_024301951.1:p.Ile2712Val | |
| XM_024446184.1:c.8005A>G | XP_024301952.1:p.Ile2669Val | |
| XM_024446185.1:c.7651A>G | XP_024301953.1:p.Ile2551Val | |
| XM_024446186.1:c.7330A>G | XP_024301954.1:p.Ile2444Val | |
| XR_001742208.1:n.8492A>G | ||
| XR_002956171.1:n.8438A>G | ||
| XR_925644.2:n.8547A>G | ||
| NM_001384732.1:c.8323A>G MANE Select | NP_001371661.1:p.Ile2775Val | |
| NM_023073.4:c.8161A>G | NP_075561.3:p.Ile2721Val |