Linked Data
dbSNP Id:
rs2070600
ExAC:
6:32151443 C / T
gnomAD v2:
6-32151443-C-T
gnomAD v3:
6-32183666-C-T
gnomAD v4:
6-32183666-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32183666C>T , CM000668.2:g.32183666C>T | GRCh38 |
| NC_000006.11:g.32151443C>T , CM000668.1:g.32151443C>T | GRCh37 |
| NC_000006.10:g.32259421C>T | NCBI36 |
| NG_029868.1:g.5657G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375076.9:c.244G>A MANE Select | ENSP00000364217.4:p.Gly82Ser | |
| ENST00000375055.6:c.244G>A | ENSP00000364195.2:p.Gly82Ser | |
| ENST00000375056.6:c.244G>A | ENSP00000364196.2:p.Gly82Ser | |
| ENST00000375065.6:c.-182+292G>A | ENSP00000364206.6:n.-182+292G>A | |
| ENST00000375067.7:c.202G>A | ENSP00000364208.3:p.Gly68Ser | |
| ENST00000375069.7:c.244G>A | ENSP00000364210.4:p.Gly82Ser | |
| ENST00000375070.7:c.-60G>A | ENSP00000364211.4:n.-60G>A | |
| ENST00000375076.8:c.244G>A | ENSP00000364217.4:p.Gly82Ser | |
| ENST00000438221.6:c.244G>A | ENSP00000387887.2:p.Gly82Ser | |
| ENST00000450110.5:c.244G>A | ENSP00000398466.1:p.Gly82Ser | |
| ENST00000484849.5:n.451G>A | ||
| ENST00000538695.2:c.244G>A | ENSP00000445389.1:p.Gly82Ser | |
| ENST00000620802.4:c.244G>A | ENSP00000484081.1:p.Gly82Ser | |
| NM_001136.4:c.244G>A | NP_001127.1:p.Gly82Ser | |
| NM_001206929.1:c.244G>A | NP_001193858.1:p.Gly82Ser | |
| NM_001206932.1:c.202G>A | NP_001193861.1:p.Gly68Ser | |
| NM_001206934.1:c.244G>A | NP_001193863.1:p.Gly82Ser | |
| NM_001206936.1:c.244G>A | NP_001193865.1:p.Gly82Ser | |
| NM_001206940.1:c.244G>A | NP_001193869.1:p.Gly82Ser | |
| NM_001206954.1:c.244G>A | NP_001193883.1:p.Gly82Ser | |
| NM_001206966.1:c.244G>A | NP_001193895.1:p.Gly82Ser | |
| NM_172197.2:c.202G>A | NP_751947.1:p.Gly68Ser | |
| NR_038190.1:n.527G>A | ||
| XM_017010328.2:c.337G>A | XP_016865817.1:p.Gly113Ser | |
| XR_001743189.2:n.402G>A | ||
| XR_001743190.2:n.402G>A | ||
| NM_001136.5:c.244G>A MANE Select | NP_001127.1:p.Gly82Ser | |
| NM_001206932.2:c.202G>A | NP_001193861.1:p.Gly68Ser | |
| NM_001206936.2:c.244G>A | NP_001193865.1:p.Gly82Ser | |
| NM_001206940.2:c.244G>A | NP_001193869.1:p.Gly82Ser | |
| NM_001206954.2:c.244G>A | NP_001193883.1:p.Gly82Ser | |
| NM_001206966.2:c.244G>A | NP_001193895.1:p.Gly82Ser | |
| NM_172197.3:c.202G>A | NP_751947.1:p.Gly68Ser | |
| NR_038190.2:n.458G>A | ||
| NM_001206929.2:c.244G>A | NP_001193858.1:p.Gly82Ser | |
| NM_001206934.2:c.244G>A | NP_001193863.1:p.Gly82Ser |