Linked Data
dbSNP Id:
rs373921873
ExAC:
16:2156580 G / A
gnomAD v2:
16-2156580-G-A
gnomAD v3:
16-2106579-G-A
gnomAD v4:
16-2106579-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106579G>A , CM000678.2:g.2106579G>A | GRCh38 |
| NC_000016.9:g.2156580G>A , CM000678.1:g.2156580G>A | GRCh37 |
| NC_000016.8:g.2096581G>A | NCBI36 |
| NG_008617.1:g.34320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7308C>T MANE Select | ENSP00000262304.4:p.Gly2436= | |
| ENST00000262304.8:c.7308C>T | ENSP00000262304.4:p.Gly2436= | |
| ENST00000415938.7:n.553C>T | ||
| ENST00000423118.5:c.7308C>T | ENSP00000399501.1:p.Gly2436= | |
| ENST00000483558.5:n.367C>T | ||
| ENST00000483731.5:n.1033C>T | ||
| ENST00000486339.6:n.1054C>T | ||
| ENST00000487932.5:c.1995C>T | ENSP00000457132.1:p.Gly665= | |
| ENST00000496574.6:n.1311C>T | ||
| ENST00000565639.6:n.1016C>T | ||
| ENST00000568591.5:c.2469C>T | ENSP00000457162.1:n.2469C>T | |
| ENST00000569983.5:n.664C>T | ||
| NM_000296.3:c.7308C>T | NP_000287.3:p.Gly2436= | |
| NM_001009944.2:c.7308C>T | NP_001009944.2:p.Gly2436= | |
| XM_005255370.2:c.4263C>T | XP_005255427.1:p.Gly1421= | |
| XM_011522525.1:c.7386C>T | XP_011520827.1:p.Gly2462= | |
| XM_011522526.1:c.7386C>T | XP_011520828.1:p.Gly2462= | |
| XM_011522527.1:c.7386C>T | XP_011520829.1:p.Gly2462= | |
| XM_011522528.1:c.7362C>T | XP_011520830.1:p.Gly2454= | |
| XM_011522529.1:c.7362C>T | XP_011520831.1:p.Gly2454= | |
| XM_011522530.1:c.7332C>T | XP_011520832.1:p.Gly2444= | |
| XM_011522531.1:c.7314C>T | XP_011520833.1:p.Gly2438= | |
| XM_011522532.1:c.7260C>T | XP_011520834.1:p.Gly2420= | |
| XM_011522533.1:c.7179C>T | XP_011520835.1:p.Gly2393= | |
| XM_011522534.1:c.7122C>T | XP_011520836.1:p.Gly2374= | |
| XM_011522535.1:c.5208C>T | XP_011520837.1:p.Gly1736= | |
| XM_011522536.1:c.7386C>T | XP_011520838.1:p.Gly2462= | |
| XM_011522537.1:c.4386C>T | XP_011520839.1:p.Gly1462= | |
| XR_932867.1:n.7401C>T | ||
| XR_932868.1:n.7401C>T | ||
| XR_932869.1:n.7401C>T | ||
| XR_932870.1:n.7401C>T | ||
| XM_005255370.3:c.4263C>T | XP_005255427.1:p.Gly1421= | |
| XM_011522528.3:c.7362C>T | XP_011520830.1:p.Gly2454= | |
| XM_011522529.2:c.7362C>T | XP_011520831.1:p.Gly2454= | |
| XM_011522537.2:c.4386C>T | XP_011520839.1:p.Gly1462= | |
| XM_024450298.1:c.7428C>T | XP_024306066.1:p.Gly2476= | |
| XM_024450299.1:c.7356C>T | XP_024306067.1:p.Gly2452= | |
| XM_024450300.1:c.7218C>T | XP_024306068.1:p.Gly2406= | |
| XM_024450301.1:c.5304C>T | XP_024306069.1:p.Gly1768= | |
| NM_000296.4:c.7308C>T | NP_000287.4:p.Gly2436= | |
| NM_001009944.3:c.7308C>T MANE Select | NP_001009944.3:p.Gly2436= |